Canonical Allele Identifier: CA368522868
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626837G>C , CM000669.2:g.100626837G>C GRCh38
NC_000007.13:g.100224460G>C , CM000669.1:g.100224460G>C GRCh37
NC_000007.12:g.100062396G>C NCBI36
NG_007989.1:g.19714C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2062C>G MANE Select ENSP00000223051.3:p.Leu688Val
ENST00000223051.7:c.2062C>G ENSP00000223051.3:p.Leu688Val
ENST00000431692.5:c.*737C>G ENSP00000413905.1:n.*737C>G
ENST00000461176.1:n.408C>G
ENST00000462090.5:n.1098C>G
ENST00000462107.1:c.2062C>G ENSP00000420525.1:p.Leu688Val
ENST00000465294.5:n.1982C>G
ENST00000476304.5:n.1683C>G
ENST00000490084.5:c.1415C>G
NM_001206855.1:c.1549C>G NP_001193784.1:p.Leu517Val
NM_003227.3:c.2062C>G NP_003218.2:p.Leu688Val
XM_005250553.3:c.2062C>G XP_005250610.1:p.Leu688Val
XM_005250554.3:c.2062C>G XP_005250611.1:p.Leu688Val
XR_927814.1:n.433+4283G>C
NM_001206855.2:c.1549C>G NP_001193784.1:p.Leu517Val
XM_005250553.4:c.2062C>G XP_005250610.1:p.Leu688Val
XM_017012573.1:c.2062C>G XP_016868062.1:p.Leu688Val
NM_003227.4:c.2062C>G MANE Select NP_003218.2:p.Leu688Val
NM_001206855.3:c.1549C>G NP_001193784.1:p.Leu517Val